Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.R2298Q
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NOTCH2

NM_024408.4:p.R2298Q

Associated Papers

Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells.

Rouhani FJ et al.

Nature Genetics, 2022

35953586 (PubMed )
Supplement: 41588_2022_1147_MOESM4_ESM.xlsx › Table_S5_hipsci_cancermut_SNV

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › MultCaCa_OtherCG
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